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Aliases for PRPS1 Gene

Aliases for PRPS1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase 1 2 3 5
  • Deafness, X-Linked 2, Perceptive, Congenital 2 3
  • Phosphoribosyl Pyrophosphate Synthase I 3 4
  • Ribose-Phosphate Diphosphokinase 1 2 3
  • EC 4 63
  • PPRibP 3 4
  • PRS-I 3 4
  • DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1) 3
  • Deafness 2, Perceptive, Congenital 3
  • PRS I 2
  • CMTX5 3
  • DFNX1 3
  • ARTS 3
  • PRSI 3
  • DFN2 3

External Ids for PRPS1 Gene

Previous HGNC Symbols for PRPS1 Gene

  • DFN2

Previous GeneCards Identifiers for PRPS1 Gene

  • GC0XP102183
  • GC0XP103790
  • GC0XP104904
  • GC0XP105643
  • GC0XP106677
  • GC0XP106871
  • GC0XP096496

Summaries for PRPS1 Gene

Entrez Gene Summary for PRPS1 Gene

  • This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for PRPS1 Gene

PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with PRPS1 include Arts Syndrome and Phosphoribosylpyrophosphate Synthetase Superactivity. Among its related pathways are Glycosaminoglycan metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is PRPSAP2.

UniProtKB/Swiss-Prot for PRPS1 Gene

  • Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPS1 Gene

Genomics for PRPS1 Gene

Regulatory Elements for PRPS1 Gene

Enhancers for PRPS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPS1 on UCSC Golden Path with GeneCards custom track

Promoters for PRPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRPS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPS1 Gene

107,628,424 bp from pter
107,651,026 bp from pter
22,603 bases
Plus strand

Genomic View for PRPS1 Gene

Genes around PRPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPS1 Gene

Proteins for PRPS1 Gene

  • Protein details for PRPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribose-phosphate pyrophosphokinase 1
    Protein Accession:
    Secondary Accessions:
    • B1ALA8
    • B2R6T7
    • B4DNL6
    • D3DUX6
    • P09329

    Protein attributes for PRPS1 Gene

    318 amino acids
    Molecular mass:
    34834 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. The active form is probably a hexamer composed of 3 homodimers.

    Three dimensional structures from OCA and Proteopedia for PRPS1 Gene

    Alternative splice isoforms for PRPS1 Gene


neXtProt entry for PRPS1 Gene

Proteomics data for PRPS1 Gene at MOPED

Post-translational modifications for PRPS1 Gene

  • Ubiquitination at Lys 176 and Lys 235
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPS1 Gene

Domains & Families for PRPS1 Gene

Suggested Antigen Peptide Sequences for PRPS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribose-phosphate pyrophosphokinase family.
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPS1: view

No data available for Gene Families for PRPS1 Gene

Function for PRPS1 Gene

Molecular function for PRPS1 Gene

GENATLAS Biochemistry:
phosphoribosyl pyrophosphate synthetase 1
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by magnesium and inorganic phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Enzyme Numbers (IUBMB) for PRPS1 Gene

Gene Ontology (GO) - Molecular Function for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16189514
GO:0016208 AMP binding IEA --
GO:0019003 GDP binding IEA --
genes like me logo Genes that share ontologies with PRPS1: view
genes like me logo Genes that share phenotypes with PRPS1: view

Human Phenotype Ontology for PRPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPS1 Gene

MGI Knock Outs for PRPS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PRPS1

miRNA for PRPS1 Gene

No data available for Transcription Factor Targets and HOMER Transcription for PRPS1 Gene

Localization for PRPS1 Gene

Subcellular locations from

Jensen Localization Image for PRPS1 Gene COMPARTMENTS Subcellular localization image for PRPS1 gene
Compartment Confidence
cytosol 5
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PRPS1 Gene

Pathways & Interactions for PRPS1 Gene

genes like me logo Genes that share pathways with PRPS1: view

Pathways by source for PRPS1 Gene

1 GeneTex pathway for PRPS1 Gene
1 BioSystems pathway for PRPS1 Gene

UniProtKB/Swiss-Prot P60891-PRPS1_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.

Gene Ontology (GO) - Biological Process for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process IMP 8253776
GO:0006164 purine nucleotide biosynthetic process IMP 12847698
GO:0009156 ribonucleoside monophosphate biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0031100 organ regeneration IEA --
genes like me logo Genes that share ontologies with PRPS1: view

No data available for SIGNOR curated interactions for PRPS1 Gene

Drugs & Compounds for PRPS1 Gene

(7) Drugs for PRPS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
Phosphoribosyl pyrophosphate Experimental Pharma 0
Magnesium Nutra 0

(6) Additional Compounds for PRPS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
  • 1-(5-Phospho-D-ribofuranosyl)adenosine 5'-(tetrahydrogen triphosphate)
  • 1-(5-Phospho-D-ribosyl)-ATP
  • 1-(5-Phosphoribosyl)-ATP
  • N1-(5-Phospho-D-ribosyl)-ATP
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
genes like me logo Genes that share compounds with PRPS1: view

Transcripts for PRPS1 Gene

Unigene Clusters for PRPS1 Gene

Phosphoribosyl pyrophosphate synthetase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -

Relevant External Links for PRPS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRPS1 Gene

mRNA expression in normal human tissues for PRPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRPS1 Gene

This gene is overexpressed in Lymph node (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPS1 Gene

SOURCE GeneReport for Unigene cluster for PRPS1 Gene Hs.56

genes like me logo Genes that share expression patterns with PRPS1: view

Protein tissue co-expression partners for PRPS1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRPS1 Gene

Orthologs for PRPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PRPS1 35
  • 93.29 (n)
  • 100 (a)
PRPS1 36
  • 100 (a)
(Canis familiaris)
Mammalia PRPS1 35
  • 93.5 (n)
  • 100 (a)
(Mus musculus)
Mammalia Prps1 35
  • 92.45 (n)
  • 100 (a)
Prps1 16
Prps1l3 36
  • 100 (a)
(Pan troglodytes)
Mammalia PRPS1 35
  • 100 (n)
  • 100 (a)
PRPS1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Prps1 35
  • 91.93 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
(Gallus gallus)
Aves PRPS1 35
  • 85.01 (n)
  • 97.8 (a)
-- 36
  • 95 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75987 35
(Danio rerio)
Actinopterygii Dr.2896 35
prps1b 35
  • 81.24 (n)
  • 96.86 (a)
prps1a 36
  • 96 (a)
prps1b 36
  • 97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6767 37
  • 88 (a)
CG6767 35
  • 73.82 (n)
  • 88.33 (a)
CG6767 36
  • 72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004890 35
  • 74.24 (n)
  • 90.54 (a)
(Caenorhabditis elegans)
Secernentea R151.2a 37
  • 81 (a)
R151.2b 37
  • 81 (a)
R151.2c 37
  • 80 (a)
R151.2 36
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 36
  • 61 (a)
PRS3 36
  • 60 (a)
PRS4 36
  • 61 (a)
PRS4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PRS2 35
  • 52.86 (n)
  • 45.95 (a)
(Oryza sativa)
Liliopsida Os.23170 35
Os02g0127700 35
  • 53.49 (n)
  • 46.73 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2065 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2559 36
  • 87 (a)
Species with no ortholog for PRPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPS1 Gene

Gene Tree for PRPS1 (if available)
Gene Tree for PRPS1 (if available)

Paralogs for PRPS1 Gene

Paralogs for PRPS1 Gene

(4) SIMAP similar genes for PRPS1 Gene using alignment to 4 proteins: Pseudogenes for PRPS1 Gene

genes like me logo Genes that share paralogs with PRPS1: view

Variants for PRPS1 Gene

Sequence variations from dbSNP and Humsavar for PRPS1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_004163 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
VAR_004164 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
VAR_016044 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
VAR_016045 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
VAR_016046 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)

Variation tolerance for PRPS1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPS1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PRPS1 Gene

Disorders for PRPS1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for PRPS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arts syndrome
  • lethal ataxia with deafness and optic atrophy
phosphoribosylpyrophosphate synthetase superactivity
  • gout, prps-related
charcot-marie-tooth disease, x-linked recessive, 5
  • cmtx5
deafness, x-linked 1
  • deafness, x-linked, 1
x-linked charcot-marie-tooth disease type 5
  • charcot-marie-tooth disease, x-linked recessive, 5
- elite association - COSMIC cancer census association via MalaCards
Search PRPS1 in MalaCards View complete list of genes associated with diseases


  • ARTS syndrome (ARTS) [MIM:301835]: A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. {ECO:0000269 PubMed:17701896}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. {ECO:0000269 PubMed:17701900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. {ECO:0000269 PubMed:20021999}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss. {ECO:0000269 PubMed:25491489}.
  • Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269 PubMed:7593598, ECO:0000269 Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PRPS1 Gene

gout,with/without neurodevelopmental abnormalities (PRPS over expression)

Relevant External Links for PRPS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PRPS1: view

Publications for PRPS1 Gene

  1. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (PMID: 20021999) Liu X. … Yuan H. (Am. J. Hum. Genet. 2010) 2 3 4 67
  2. PRPS1 mutations: four distinct syndromes and potential treatment. (PMID: 20380929) de Brouwer A.P. … Duley J. (Am. J. Hum. Genet. 2010) 3 23
  3. Arts syndrome is caused by loss-of-function mutations in PRPS1. (PMID: 17701896) de Brouwer A.P.M. … van Bokhoven H. (Am. J. Hum. Genet. 2007) 3 23
  4. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). (PMID: 17701900) Kim H.-J. … Kim J.-W. (Am. J. Hum. Genet. 2007) 3 23
  5. Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1). (PMID: 16682768) Tang W. … Niu L. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2006) 3 23

Products for PRPS1 Gene

Sources for PRPS1 Gene